Frontotemporal dementia : impact of P301L tau mutation on a healthy carrier

Alberici, A. and Gobbo, C. and Panzacchi, A. and Nicosia, F. and Ghidoni, R. and Benussi, L. and Hock, C. and Papassotiropoulos, A. and Liberini, P. and Growdon, J. H. and Frisoni, G. B. and Villa, A. and Zanetti, O. and Cappa, S. and Fazio, F. and Binetti, G.. (2004) Frontotemporal dementia : impact of P301L tau mutation on a healthy carrier. Journal of neurology, neurosurgery, and psychiatry, Vol. 75, H. 11. pp. 1607-1610.

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Official URL: http://edoc.unibas.ch/dok/A5257175

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Frontotemporal dementia (FTD) is the second commonest form of dementia after Alzheimer's disease, but its clinical and biological features are less well known. To uncover its earliest signs, we studied the main clinical, neuroimaging, and biochemical findings in an asymptomatic carrier from a three generation FTD family, bearing the P301L pathogenic mutation in the tau gene. Except for selective impairment on the Verbal Fluency Test for letters, all cognitive tests were normal. The brain computed tomography scan was normal, but the brain single photon emission computed tomography and statistical parametric mapping (SPECT-SPM) scan revealed bilateral frontal lobe hypoperfusion. Levels of total tau, 181P-tau, and Abeta1-42 in the cerebrospinal fluid were increased compared with control values. We conclude that detection of these distinctive abnormalities should improve early diagnostic accuracy for FTD and help distinguish it from Alzheimer's disease.
Faculties and Departments:05 Faculty of Science > Departement Biozentrum > Services Biozentrum > Life Sciences Training Facility (Papassotiropoulos)
07 Faculty of Psychology > Departement Psychologie > Ehemalige Einheiten Psychologie > Molecular Neuroscience (Papassotiropoulos)
UniBasel Contributors:Papassotiropoulos, Andreas
Item Type:Article, refereed
Article Subtype:Research Article
Publisher:British Medical Association
Note:Publication type according to Uni Basel Research Database: Journal article
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Last Modified:22 Mar 2012 14:22
Deposited On:22 Mar 2012 13:29

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